{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T03:54:05Z","timestamp":1789444445951,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,3,3]],"date-time":"2006-03-03T00:00:00Z","timestamp":1141344000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2006,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p> <jats:italic>ETV6<\/jats:italic> at 12p13 is rearranged in a variety of haematological malignancies and solid tumours, with more than 20 different partners having been reported. These fusions result in either chimeric proteins or activation of the partner gene. However, there are a few examples of abnormalities resulting in truncated and, most likely, unproductive ETV6 proteins, suggesting that haploinsufficiency of <jats:italic>ETV6<\/jats:italic> and\/or the partner is leukaemogenic. We present a novel <jats:italic>ETV6<\/jats:italic> rearrangement, identified in a paediatric pre\u2010B acute lymphoblastic leukaemia. Fluorescence <jats:italic>in situ<\/jats:italic> hybridisation (FISH) and molecular genetic analyses revealed a fusion of <jats:italic>ETV6<\/jats:italic> and <jats:italic>BAZ2A<\/jats:italic> (at 12q13), generated through a cryptic rearrangement between 12p13 and 12q13, consisting of exons 1 and 2 of <jats:italic>ETV6<\/jats:italic> and a sequence from intron 1 of <jats:italic>BAZ2A<\/jats:italic>. This transcript is not expected to produce any chimeric protein, but may encode a truncated form of ETV6, containing the first 54 amino acids (aa), followed by 16 aa from the 3\u2032 fusion sequence, reminiscent of <jats:italic>ETV6<\/jats:italic> fusions with <jats:italic>MDS2<\/jats:italic>, <jats:italic>LOC115548<\/jats:italic>, <jats:italic>PER1<\/jats:italic>, and <jats:italic>STL<\/jats:italic>. The rearrangement might also modify the regulation of <jats:italic>BAZ2A<\/jats:italic> by either activating a cryptic promoter or by coming under the control of the <jats:italic>ETV6<\/jats:italic> promoter. The present case emphasises that \u2018unproductive\u2019<jats:italic>ETV6<\/jats:italic> rearrangements may play an important pathogenetic role in leukaemia.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2006.06020.x","type":"journal-article","created":{"date-parts":[[2006,3,3]],"date-time":"2006-03-03T14:30:13Z","timestamp":1141396213000},"page":"270-275","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Fusion of <i>ETV6<\/i> with an intronic sequence of the <i>BAZ2A<\/i> gene in a paediatric pre\u2010B acute lymphoblastic leukaemia with a cryptic chromosome 12 rearrangement"],"prefix":"10.1111","volume":"133","author":[{"given":"Ioannis","family":"Panagopoulos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bodil","family":"Str\u00f6mbeck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margareth","family":"Isaksson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesper","family":"Heldrup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tor","family":"Olofsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertil","family":"Johansson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,3,31]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20081"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcancer.2005.01.008"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.5.1776"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2401961"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/07853890410018808"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.6071"},{"key":"e_1_2_6_8_1","volume-title":"Mitelman database of chromosome aberrations in cancer","author":"Mitelman F.","year":"2005"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0268-960X(03)00040-7"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.10090"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.1415"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.10175"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/19.13.3377"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/35106108"},{"key":"e_1_2_6_15_1","first-page":"4886","article-title":"Heterogeneity in the breakpoints in balanced rearrangements involving band 12p13 in hematologic malignancies identified by fluorescence in situ hybridization: TEL (ETV6) is involved in only one half","volume":"90","author":"Sato Y.","year":"1997","journal-title":"Blood"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/20.17.4892"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199911)26:3<192::AID-GCC2>3.0.CO;2-E"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2141.2006.06020.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2141.2006.06020.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T00:14:05Z","timestamp":1697415245000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2141.2006.06020.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,3,31]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,5]]}},"alternative-id":["10.1111\/j.1365-2141.2006.06020.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2141.2006.06020.x","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,3,31]]},"assertion":[{"value":"2006-03-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}